At 20, the genome benefits more whites and the rich – 02/13/2021 – Marcelo Leite

This Monday (15) marks the 20th anniversary of the publication of the species’s DNA sequence by Nature magazine. The spelling of 3 billion genetic characters was an accomplishment by the Human Genome Project (PGH), a public institution initiative launched a decade earlier.

The next day, competitor Science published another sequencing carried out by Celera. Almost eight months earlier, the two initiatives had agreed to end and at the same time disclose the predatory competition.

Public investment in the contract was $ 5.4 billion (in updated values). With the conclusion of the agreement between PGH and Celera, then US President Bill Clinton justified this with the fact that his grandchildren would only hear about cancer as a zodiac sign. Are we close to that?

Short answer: no. Exaggerations have been omitted to give a view more proportional to the actual progress that can be made based on the sequencing. Nobody talks about the book of life or the instructions for use.

Of course a lot was learned. By then, however, those familiar with the subject already knew that translating genomic information into clinical practice – so-called precise, personalized medicine – would take some time. It took and it will take.

Finding the gene for this and that – cancer, schizophrenia, obesity, etc. – was a useful but misleading advertising concept. Such conditions result from the interaction of many genes and proteins in the body with the environment, and research has evolved into whole-genome association studies (GWAS).

It works like this: If you compare the sequences of many people with a certain characteristic or a certain illness, computers fish between tens of letters that these people share. These can be whole genes or even isolated letters, the single nucleotide polymorphisms (SNP).

This is where the hard work begins to investigate what these genetic variants might have to do with the disease. With luck, you will discover the functions (or disorders) they are involved in, and with luck, you will arrive at a drug or treatment.

The process depends on the availability of many people with genomes in databases. However, the various databases of information collections do not speak well with each other. To protect the privacy of those who provided DNA, there are bureaucratic barriers for a researcher to download the data.

Few genes, such as TP53, which are involved in multiple tumors, have been extensively studied. Another star is TNF, which has been linked to 160 diseases. Researchers would rather bet on winning horses than risk their careers. Only 10% of the 20,000 proteins the body makes from the genome have been identified as drug targets.

There is also a problem of equity: there is very little diversity among the accessible genomes. Less than 5% of the strings are made by people of African origin. In other words, the results obtained can be limited to benefiting the richest and whites.

There is still a long way to go. In the same nature, Albert-László Barabási remarked with humility a few days ago:

“A precise overview of the components is necessary – but not sufficient – in order to understand a system. Complexity arises from the variety of interactions between components. After 20 years of research based on PGH, biologists now have insight into the dynamics and structure of the network that defines life. “

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